Some hormonal disturbances before birth can lead to abnormal genital development.
The most serious genital abnormalities are those that can lead to the wrong sex being diagnosed at birth. The most important event in the identification of sex of a newborn infant is inspection of the genitals, which may appear to be unmistakably male or female, regardless of whether the genetic sex or the sex of the gonads corresponds.
If there is any doubt, genetic sex can be confirmed quickly by examination through the microscope of cells wiped from the inside of the mouth (this is called the buccal smear test). Cells of females show a minute particle (called the Barr body) within the nucleus. This particle is absent in males. In cities, analyses of chromosomes and genes to confirm sex may be available, but these tests take longer.
Masculinisation of the female external genitals
Congenital adrenal hyperplasia is an inherited condition wherein enzymes need, needed by the adrenal gland to make cortisone are lacking. Because there is no cortisone in the foetus’s blood, the pituitary stimulates the adrenal to overgrow (‘hyper-plasia’ means overgrowth) and work harder. The result is that it produces more and more of all its hormones – except cortisone. The overproduction of male hormones leads to masculinisation of the external genitals. The clitoris may be so enlarged as to resemble a penis, and the labia may be partly or wholly fused like a scrotal sac. If sexual identification is made only by looking at the genitals, mistake can be made, even though the infant has normal female chromosomes, ovaries and internal reproductive organs.
Infants with congenital adrenal hyperplasia also can’t conserve salt and usually become severely ill during the first few] days after birth. Early diagnosis and treatment is needed to save the baby’s life. Treatment with cortisone must commence at once and continue throughout life to suppress adrenal hyperactivity. Plastic surgery techniques are usually needed to restore the genitals to normal female appearance and function.
Masculinisation of the female foetus’s genitals can also result if the mother takes certain synthetic progestogens with androgenic effects during pregnancy or, very rarely, if the mother has an androgen-producing tumour. Some synthetic progestogens that were used in the 1950s and early ’60s to treat some types of repeated miscarriage occasionally resulted in overgrowth of the clitoris and incorrect diagnosis of male sex at birth. These progestogens are no longer used to prevent miscarriage. Their effects were never as pronounced as those of adrenal hyperplasia, and stopped as soon as maternal treatment finished. Surgical correction was rarely needed.
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